E-LIB Suche - Ergebnisse für: Unen, Leontine

1

Functional Assays Combined with Pre-mRNA-Splicing Analysis ..:

Douben, Hannie ; Hoogeveen-Westerveld, Marianne ; Nellist, Mark...
Human Mutation. 2023 (2023) - p. 1-14 , 2023

Link: https://doi.org/10.1155/..

2

Mild TSC phenotype and non-penetrance associated with a fra..:

Farach, Laura S. ; Northrup, Hope ; Nellist, Mark...
Gene. 877 (2023) - p. 147566 , 2023

Link: https://doi.org/10.1016/..

3

High‐yield identification of pathogenicNF1variants by skin ..:

Douben, Hannie C. W. ; Nellist, Mark ; van Unen, Leontine...
Human Mutation. 43 (2022) 12 - p. 2130-2140 , 2022

Link: https://doi.org/10.1002/..

4

eP120: Predicted frameshift variant in TSC2 associated with..:

Farach, Laura ; Au, Kit-Sing ; Nellist, Mark...
Genetics in Medicine. 24 (2022) 3 - p. S75-S76 , 2022

Link: https://doi.org/10.1016/..

5

Variants in members of the cadherin–catenin complex, CDH1 a..:

Kievit, Anneke ; Tessadori, Federico ; Douben, Hannie...
European Journal of Human Genetics. 26 (2018) 2 - p. 210-219 , 2018

Link: https://doi.org/10.1038/..

6

Severe presentation of WDR62 mutation: Is there a role for ..:

Poulton, Cathryn J. ; Schot, Rachel ; Seufert, Katja...
American Journal of Medical Genetics Part A. 164 (2014) 9 - p. 2161-2171 , 2014

Link: https://doi.org/10.1002/..

7

Novel RNA-binding properties of the MTG chromatin regulator..:

Rossetti, Stefano ; van Unen, Leontine ; Sacchi, Nicoletta.
BMC Molecular Biology. 9 (2008) 1 - p. 93 , 2008

Link: https://doi.org/10.1186/..

8

Loss ofFMR1hypermethylation in somatic cell heterokaryons:

Stoyanova, Violeta ; Rossetti, Stefano ; Unen, Leontine..
The FASEB Journal. 18 (2004) 15 - p. 1964-1966 , 2004

Link: https://doi.org/10.1096/..

9

Heterogeneous clinical phenotypes and cerebral malformation..:

Vandervore, Laura V ; Schot, Rachel ; Kasteleijn, Esmee...
Brain. 142 (2019) 4 - p. 867-884 , 2019

Link: https://doi.org/10.1093/..

10

Mutated zinc finger protein of the cerebellum 1 leads to mi..:

Vandervore, Laura V. ; Schot, Rachel ; Hoogeboom, A. Jeannette M....
European Journal of Medical Genetics. 61 (2018) 12 - p. 783-789 , 2018

Link: https://doi.org/10.1016/..

11

Correction: Human mutations in integrator complex subunits ..:

Oegema, Renske ; Baillat, David ; Schot, Rachel...
PLOS Genetics. 13 (2017) 8 - p. e1006923 , 2017

Link: https://doi.org/10.1371/..

12

Human mutations in integrator complex subunits link transcr..:

Oegema, Renske ; Baillat, David ; Schot, Rachel...
PLOS Genetics. 13 (2017) 5 - p. e1006809 , 2017

Link: https://doi.org/10.1371/..

13

Novel no‐stop FLNA mutation causes multi‐organ involvement ..:

Oegema, Renske ; Hulst, Jessie M. ; Theuns‐Valks, Sabine D.M....
American Journal of Medical Genetics Part A. 161 (2013) 9 - p. 2376-2384 , 2013

Link: https://doi.org/10.1002/..

14

Epitope specificity of murine and human bactericidal antibo..:

Rouppe van der Voort, Eileene M. ; Kuipers, Betsy ; Brugghe, Humphrey F....
FEMS Immunology & Medical Microbiology. 17 (1997) 3 - p. 139-148 , 1997

Link: https://doi.org/10.1111/..

15

Thermodynamic Analysis of the Interaction between a Bacteri..:

van den Elsen, Jean M. H. ; van Unen, Leontine M. A. ; van Bloois, Louis...
Biochemistry. 36 (1997) 41 - p. 12583-12591 , 1997

Link: https://doi.org/10.1021/..